Canonical Allele Identifier: CA339954407

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1203803892
• gnomAD v2: 1-43393464-T-G
• gnomAD v4: 1-42927793-T-G
• MyVariant Identifiers: chr1:g.43393464T>G (hg19) ; chr1:g.42927793T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927793T>G , CM000663.2:g.42927793T>G	GRCh38
NC_000001.10:g.43393464T>G , CM000663.1:g.43393464T>G	GRCh37
NC_000001.9:g.43166051T>G	NCBI36
NG_008232.1:g.36384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1090A>C MANE Select	ENSP00000416293.2:p.Met364Leu
ENST00000674545.1:n.1707A>C
ENST00000674765.1:c.1030-936A>C	ENSP00000501811.1:n.1030-936A>C
ENST00000675112.1:n.1391A>C
ENST00000676254.1:n.1539A>C
ENST00000426263.7:c.1090A>C	ENSP00000416293.2:p.Met364Leu
ENST00000475162.3:c.416-815A>C
ENST00000630287.2:c.*405A>C	ENSP00000486694.1:n.*405A>C
NM_006516.2:c.1090A>C	NP_006507.2:p.Met364Leu
NM_006516.3:c.1090A>C	NP_006507.2:p.Met364Leu
NM_006516.4:c.1090A>C MANE Select	NP_006507.2:p.Met364Leu